rs768471577, SLC26A4

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 0.710 1.000 7 2000 2015
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 0.700 0